Devoted to research

Navigating through metabolic disorders at the subcellular level, our research aims to understand organelles at the core of the pathogenesis, develop novel biomarkers and uncover potential drug targets.

  1. Research Projects

Research projects

CENTOGENE embraces the vision of patient engagement in healthcare decisions, as we move further into the era of personalized medicine.

Together with renowned international scientists and academic institutions, e.g. Universities of Rostock, Lübeck, Greifswald, we conduct several epidemiological studies with global partners.

These joint projects involve hundreds of patients affected with disorders such as Fabry, Pompe, Krabbe, various forms of mucopolysacharoidoses and others. International collaborations yield a rich collection of genetic and biochemical data which are used to map out phenotype-genotype correlations and improve the accuracy of diagnostics and prognostics.


  • BioWolman - Biomarker for Wolman disease

    Wolman disease is a rare genetic disorder characterized by the complete absence of an enzyme known as lysosomal acid lipase (LIPA or LAL). This enzyme is required to breakdown (metabolize) lipids in the body. Without the LIPA enzyme, lipids may abnormally accumulate in the tissues and organs of the…

  • BioML - Biomarker for Mucolipidosis disorder type I, II, II or IV

    Mucolipidoses (ML) are a group of inherited metabolic diseases in which both glycosaminoglycans (GAGs) and another group of substances called sphingolipids build up in the body. The goal of this study is to develop new biochemical markers from the plasma of affected patients, helping to benefit the…

  • BioSly - Biomarker for Sly disease

    Mucopolysaccharidosis type VII (also known as Sly syndrome) is an inherited disease caused by a lack of the enzyme beta-glucuronidase. The goal of the study is to validate this new biochemical marker for Sly disease from the plasma of the affected patients, helping to benefit other patients by an…

  • BioGM1/BioGM2

    The goal of this study is to validate this new biochemical marker from the plasma of affected patients helping to benefit other patients by an early diagnosis and thereby with earlier treatment.

  • BioHurler

    The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other patients by an early diagnosis and thereby with earlier treatment.

  • BioFarber

    Farber disease, also known as Farber’s lipogranulomatosis, is an autosomal recessive lysosomal storage disease marked by a deficiency in enzyme ceramidase which causes a progressive accumulation of fatty material lipids leading to abnormalities in the joints, liver, throat, tissues, and central…

  • BioMeta - Biomarker for Metachromatic leukodystrophy disease

    Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other patients by an early diagnosis and thereby with earlier…

  • BioMaroteaux-Lamy - Biomarker for Maroteaux-Lamy disease

    Maroteaux-Lamy disease (MPS VI) is a lysosomal storage disease inherited in an autosomal recessive pattern. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other patients by an early diagnosis and thereby with…

  • BioMorquio - Biomarker for Morquio disease

    The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other patients by an early diagnosis and thereby with earlier treatment. Examining…

  • BioKrabbe

    The goal of this study is to develop new biochemical markers from the plasma of affected patients, helping to benefit the patient with early diagnosis and thereby with earlier treatment.


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